From the Department of Abdominal Radiology, The University of Texas MD Anderson Cancer Center.
Department of Pathology, Michael E. DeBakey VA Medical Center, Houston, TX.
J Comput Assist Tomogr. 2022;46(5):676-681. doi: 10.1097/RCT.0000000000001350. Epub 2022 Jun 21.
Also referred to as "osteoclast-rich, clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT)," malignant gastrointestinal neuroectodermal tumor is a newly described, rare, aggressive sarcoma that commonly arises in the small bowel, stomach, and colon. Histogenesis is likely from an autonomous nervous system-related primitive cell of neural crest origin. The hallmark genetic finding of EWS-CREB1 or EWS-ATF1 fusion transcripts clinches the diagnosis. Annular constrictive lesions tend to be smaller, show homogenous contrast enhancement on computed tomography, and may present with bowel obstruction. Larger, expansile masses tend to be exophytic and show heterogeneous contrast enhancement. Surgical resection is the mainstay of treatment. Frequent recurrences, metastases, and death from disease in 75% of patients portend a poor prognosis. Targeted chemotherapy based on specific tumor pathways is being developed.
也被称为“富含破骨细胞的胃肠道透明细胞肉瘤样肿瘤(CCSLGT)”,恶性胃肠道神经外胚层肿瘤是一种新描述的、罕见的侵袭性肉瘤,常见于小肠、胃和结肠。其组织发生可能来自自主神经系统相关的神经嵴原始细胞。EWS-CREB1 或 EWS-ATF1 融合转录本的标志性遗传学发现确立了诊断。环状缩窄性病变往往较小,在计算机断层扫描上表现为均匀的对比增强,可能表现为肠梗阻。较大的外生性扩张性肿块往往表现为不均匀的对比增强。手术切除是主要的治疗方法。75%的患者经常复发、转移和死于疾病,预后不良。正在开发基于特定肿瘤途径的靶向化疗。